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RBM42 RNA binding motif protein 42 [ Homo sapiens (human) ]

Gene ID: 79171, updated on 5-Mar-2024

Summary

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Official Symbol
RBM42provided by HGNC
Official Full Name
RNA binding motif protein 42provided by HGNC
Primary source
HGNC:HGNC:28117
See related
Ensembl:ENSG00000126254 MIM:613232; AllianceGenome:HGNC:28117
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Enables RNA binding activity. Predicted to act upstream of or within negative regulation of mRNA splicing, via spliceosome. Predicted to be located in cytoplasm and nucleus. Predicted to be part of ribonucleoprotein complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in fat (RPKM 19.0), spleen (RPKM 16.6) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
19q13.12
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (35629036..35637685)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (38173991..38182639)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (36119938..36128587)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene HAUS5 divergent transcript Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:36103371-36103926 Neighboring gene HAUS augmin like complex subunit 5 Neighboring gene tRNA-undetermined (NNN) 10-1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:36118908-36119435 Neighboring gene Sharpr-MPRA regulatory region 5913 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:36132803-36133518 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10530 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10531 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14489 Neighboring gene ETS variant transcription factor 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14490 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14491 Neighboring gene cytochrome c oxidase subunit 6B1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Discovery of a splicing regulator required for cell cycle progression. Suvorova ES, et al. PLoS Genet, 2013. PMID 23437009, Free PMC Article
  2. hnRNP K interacts with RNA binding motif protein 42 and functions in the maintenance of cellular ATP level during stress conditions. Fukuda T, et al. Genes Cells, 2009 Feb. PMID 19170760
  3. Mechanism of 5' splice site transfer for human spliceosome activation. Charenton C, et al. Science, 2019 Apr 26. PMID 30975767, Free PMC Article
  4. The SWI/SNF chromatin remodeling factor DPF3 regulates metastasis of ccRCC by modulating TGF-β signaling. Cui H, et al. Nat Commun, 2022 Aug 9. PMID 35945219, Free PMC Article
  5. USP7 Regulates Cytokinesis through FBXO38 and KIF20B. Georges A, et al. Sci Rep, 2019 Feb 25. PMID 30804394, Free PMC Article

See all (52) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Biallelic variants in RBM42 cause a multisystem disorder with neurological, facial, cardiac, and musculoskeletal involvement.
    Title: Biallelic variants in RBM42 cause a multisystem disorder with neurological, facial, cardiac, and musculoskeletal involvement.
  2. hnRNP K and RBM42 have a role in the maintenance of cellular ATP level in the stress conditions possibly through protecting their target mRNAs.
    Title: hnRNP K interacts with RNA binding motif protein 42 and functions in the maintenance of cellular ATP level during stress conditions.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Rev rev HIV-1 Rev interacting protein, RNA binding motif protein 42 (RBM42), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Clone Names

  • MGC10433

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables mRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in mRNA splicing, via spliceosome NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in negative regulation of mRNA splicing, via spliceosome IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of U4/U6 x U5 tri-snRNP complex IPI
Inferred from Physical Interaction
more info
 PubMed 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
located_in nucleus NAS
Non-traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
RNA-binding protein 42

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001319113.2 → NP_001306042.1  RNA-binding protein 42 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon and uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    BC002868, HY031737
    UniProtKB/TrEMBL
    K7EP90
    Related
    ENSP00000466044.1, ENST00000588161.5
    Conserved Domains (1) summary
    cd12383
    Location:346 → 428
    RRM_RBM42; RNA recognition motif in RNA-binding protein 42 (RBM42) and similar proteins

  2. NM_024321.5 → NP_077297.2  RNA-binding protein 42 isoform 1

    See identical proteins and their annotated locations for NP_077297.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    BC004204, HY031737
    Consensus CDS
    CCDS12468.1
    UniProtKB/Swiss-Prot
    O00320, Q8N5R7, Q9BTD8, Q9BU66
    UniProtKB/TrEMBL
    K7EP90
    Related
    ENSP00000262633.3, ENST00000262633.9
    Conserved Domains (1) summary
    cd12383
    Location:375 → 457
    RRM_RBM42; RNA recognition motif (RRM) found in RNA-binding protein 42 (RBM42) and similar proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    35629036..35637685
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    38173991..38182639
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BTD8.1 GenPept UniProtKB/Swiss-Prot:Q9BTD8

Gene LinkOut

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